Aplasia Cutis Congenita Clinical Presentation

Updated: Jun 16, 2020
  • Author: Chris G Adigun, MD, FAAD; Chief Editor: William D James, MD  more...
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Obstetric history should include a review of maternal medications and infections such as varicella or herpes simplex viruses during the pregnancy. Initial multiple pregnancy with death of a co-twin or any placental anomalies should be determined. Because some forms of aplasia cutis congenita (ACC) are inherited, a thorough family history is also important.


Physical Examination

The diagnosis of aplasia cutis congenita (ACC) is made on the basis of physical findings indicative of an in utero disruption of skin development. Most lesions occur on the scalp lateral to the midline, but they may also occur on the face, trunk, or limbs, sometimes symmetrically.

The lesions are noninflammatory and well-demarcated. The appearance of the lesions varies, depending on when they occur during intrauterine development. Lesions that form early in gestation may heal before delivery and appear as an atrophic, membranous, parchmentlike or fibrotic alopecic scar, whereas less mature defects may present as an ulceration of variable depth. With only the epidermis and the upper dermis involved, minimal alopecic scarring may result, but deeper defects may extend through the dermis, subcutaneous tissue, and rarely periosteum, skull, or dura. Distorted hair growth around a scalp lesion, known as the hair collar sign, is commonly seen with membranous aplasia cutis and is a marker for underlying defects such as encephaloceles, meningoceles, and heterotopic brain tissue.

This area of healed aplasia cutis congenita is loc This area of healed aplasia cutis congenita is located in an area of nevus flammeus. Note the collarette of coarser hair at the margin of the defect.
Extensive aplasia cutis congenita on the scalp, ex Extensive aplasia cutis congenita on the scalp, extending down to the skull.

A rare bullous variant of aplasia cutis congenita, manifesting as a tense yellow vesicle or cyst on the scalp, has been reported. However, it is usually seen after the bullae have absorbed, leaving a flat scar. Some authors thus equate the terms "bullous" and "membranous."

A complete physical examination should be performed to search for associated physical anomalies or recognizable malformation syndromes. Particular attention should be given to limb and digit defects.

Bilateral involvement of the lower extremities in Bilateral involvement of the lower extremities in aplasia cutis congenita associated with fetus papyraceous.


Major complications of aplasia cutis congenita (ACC) are rare but include hemorrhage, secondary local infection, meningitis, or sagittal sinus thrombosis.

Larger lesions associated with underlying bony defects may result in death secondary to central nervous system infection or hemorrhage from the sagittal sinus.